E Erdogdu, N Dilek, R Arisoy, A E Tahaoglu, T Karacor, C Andan. Show Affiliations »
Abstract
Entities: Disease
Mesh： See more » AdultChondrodysplasia Punctata, Rhizomelic/diagnosisChondrodysplasia Punctata, Rhizomelic/geneticsChromosome Aberrations/embryologyConsanguinityDNA Mutational AnalysisFemaleFemur/abnormalitiesGenes, Recessive/geneticsHumansHumerus/abnormalitiesInfant, NewbornPHEX Phosphate Regulating Neutral Endopeptidase/geneticsPeroxisomal Targeting Signal 2 Receptor/deficiencyPregnancyPrenatal DiagnosisTibia/abnormalitiesUltrasonography, Prenatal
Substances： See more » Peroxisomal Targeting Signal 2 ReceptorPHEX Phosphate Regulating Neutral EndopeptidasePHEX protein, human
Year: 2016 PMID： 30226976
Source DB: PubMed Journal: Genet Couns ISSN： 1015-8146